Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome.

Abstract

X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated. Here we report the establishment of SDUBMSi009-A, an induced pluripotent stem cell line derived from patient carrying splicing variant (c. 940-11G>A) of OCRL gene by non-integrative reprogramming technology. The iPSC line showed strong pluripotent characteristics, including expressing pluripotent markers and potential to differentiate into the three germ layers. In the meanwhile, the iPSC line kept a normal male karyotype.

• Authors: Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo
• Journal: Stem cell research (Stem Cell Res) Vol. 51 Pg. 102171 (03 2021) ISSN: 1876-7753 [Electronic] England
• PMID: 33540283 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• Phosphoric Monoester Hydrolases

Topics

• Humans
• Induced Pluripotent Stem Cells (metabolism)
• Male
• Mutation
• Oculocerebrorenal Syndrome
• Phosphoric Monoester Hydrolases (genetics, metabolism)
• RNA Splicing